ALOX5AP
arachidonate 5-lipoxygenase activating protein
Summary
This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73163047 | 13:31,287,981 | G/A | — | likely benign |
| rs17222814 | 13:31,299,553 | G/A | regulatory region variant | — |
| rs17216473 | 13:31,303,965 | G/T | — | — |
| rs4076128 | 13:31,305,143 | A/G | regulatory region variant | — |
| rs17222919 | 13:31,308,329 | T/A | — | — |
| rs78236471 | 13:31,309,703 | T/C | — | likely benign |
| rs11542984 | 13:31,309,784 | C/T | — | likely benign |
| rs9579646 | 13:31,310,579 | G/C | — | — |
| rs4293222 | 13:31,311,773 | C/T | — | — |
| rs10507391 | 13:31,312,096 | A/T | intron variant | — |
| rs12429692 | 13:31,312,178 | A/T | intron variant | — |
| rs4769873 | 13:31,312,689 | C/T | intron variant | — |
| rs3885907 | 13:31,314,455 | C/A | regulatory region variant | — |
| rs3922435 | 13:31,314,680 | T/C | regulatory region variant | — |
| rs4360791 | 13:31,318,020 | G/A | regulatory region variant | — |
| rs141376946 | 13:31,318,222 | C/T | — | likely benign |
| rs41351946 | 13:31,318,249 | T/C | — | benign |
| rs772183678 | 13:31,318,290 | C/T | — | uncertain significance |
| rs4147064 | 13:31,320,118 | T/G | — | — |
| rs201824468 | 13:31,326,223 | G/T | — | uncertain significance |
| rs4769874 | 13:31,326,441 | G/A | regulatory region variant | — |
| rs1489183133 | 13:31,330,121 | G/T | — | uncertain significance |
| rs9551963 | 13:31,332,547 | A/C | intron variant | — |
| rs281864911 | 13:31,332,613 | T/C | — | not provided |
| rs9315050 | 13:31,336,045 | A/G | intron variant | — |
| rs4769060 | 13:31,337,877 | A/T | — | — |
| rs2541631014 | 13:31,338,086 | C/G | — | uncertain significance |
| rs141412081 | 13:31,338,109 | A/G | — | uncertain significance |
| rs745453301 | 13:31,338,196 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.